BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

243 related articles for article (PubMed ID: 37501076)

  • 21. Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
    Wayhelova M; Vallova V; Broz P; Mikulasova A; Smetana J; Dynkova Filkova H; Machackova D; Handzusova K; Gaillyova R; Kuglik P
    Orphanet J Rare Dis; 2024 Feb; 19(1):41. PubMed ID: 38321498
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
    Kim SH; Kim B; Lee JS; Kim HD; Choi JR; Lee ST; Kang HC
    Pediatr Neurol; 2019 Oct; 99():47-54. PubMed ID: 30952489
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
    Wu CW; Lim TY; Wang C; Seltzsam S; Zheng B; Schierbaum L; Schneider S; Mann N; Connaughton DM; Nakayama M; van der Ven AT; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Stajic N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Turudic D; Al Saffar M; Awad HS; Eid LA; Ramanathan A; Senguttuvan P; Mane SM; Lee RS; Bauer SB; Lu W; Hilger AC; Tasic V; Shril S; Sanna-Cherchi S; Hildebrandt F
    Eur Urol Open Sci; 2022 Oct; 44():106-112. PubMed ID: 36185583
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
    Tolezano GC; Bastos GC; da Costa SS; Scliar MO; de Souza CFM; Van Der Linden H; Fernandes WLM; Otto PA; Vianna-Morgante AM; Haddad LA; Honjo RS; Yamamoto GL; Kim CA; Rosenberg C; Jorge AAL; Bertola DR; Krepischi ACV
    Mol Neurobiol; 2024 Jan; ():. PubMed ID: 38180615
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
    Dawidziuk M; Gambin T; Bukowska-Olech E; Antczak-Marach D; Badura-Stronka M; Buda P; Budzynska E; Castaneda J; Chilarska T; Czyzyk E; Eckersdorf-Mastalerz A; Fijak-Moskal J; Gieruszczak-Bialek D; Glodek-Brzozowska E; Goszczanska-Ciuchta A; Grzeszykowska-Podymniak M; Gurda B; Jakubiuk-Tomaszuk A; Jamroz E; Janeczko M; Jedlińska-Pijanowska D; Jurek M; Karolewska D; Kazmierczak A; Kleist T; Kochanowska I; Krajewska-Walasek M; Kufel K; Kutkowska-Kaźmierczak A; Lipiec A; Maksym-Gasiorek D; Materna-Kiryluk A; Mazurkiewicz H; Milewski M; Pavina-Guglas T; Pietrzyk A; Posmyk R; Pyrkosz A; Rudzka-Dybala M; Slezak R; Wisniewska M; Zalewska-Miszkurka Z; Szczepanik E; Obersztyn E; Bekiesinska-Figatowska M; Gawlinski P; Wiszniewski W
    Genes (Basel); 2021 Dec; 12(12):. PubMed ID: 34946966
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
    Susgun S; Kesim Y; Khalilov D; Sirin NG; Gezegen H; Salman B; Yucesan E; Gokcay G; Korbeyli HK; Balci MC; Iseri SAU; Baykan B; Bebek N
    Neurol Sci; 2023 Jul; 44(7):2527-2540. PubMed ID: 36849695
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
    Salpietro V; Maroofian R; Zaki MS; Wangen J; Ciolfi A; Barresi S; Efthymiou S; Lamaze A; Aughey GN; Al Mutairi F; Rad A; Rocca C; Calì E; Accogli A; Zara F; Striano P; Mojarrad M; Tariq H; Giacopuzzi E; Taylor JC; Oprea G; Skrahina V; Rehman KU; Abd Elmaksoud M; Bassiony M; El Said HG; Abdel-Hamid MS; Al Shalan M; Seo G; Kim S; Lee H; Khang R; Issa MY; Elbendary HM; Rafat K; Marinakis NM; Traeger-Synodinos J; Ververi A; Sourmpi M; Eslahi A; Khadivi Zand F; Beiraghi Toosi M; Babaei M; Jackson A; ; Bertoli-Avella A; Pagnamenta AT; Niceta M; Battini R; Corsello A; Leoni C; Chiarelli F; Dallapiccola B; Faqeih EA; Tallur KK; Alfadhel M; Alobeid E; Maddirevula S; Mankad K; Banka S; Ghayoor-Karimiani E; Tartaglia M; Chung WK; Green R; Alkuraya FS; Jepson JEC; Houlden H
    Am J Hum Genet; 2024 Jan; 111(1):200-210. PubMed ID: 38118446
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
    Dastan J; Chijiwa C; Tang F; Martell S; Qiao Y; Rajcan-Separovic E; Lewis MES
    BMC Med Genet; 2016 Nov; 17(1):78. PubMed ID: 27832746
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Whole exome sequencing analysis and prenatal diagnosis in children with neurodevelopmental disorders].
    Qin YY; Yao YY; Liu N; Wang B; Liu LJ; Li H; Gao TXZ; Xu RH; Wang XY; Song JP
    Zhonghua Yu Fang Yi Xue Za Zhi; 2023 May; 57(5):753-759. PubMed ID: 37165823
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
    Gao C; Wang X; Mei S; Li D; Duan J; Zhang P; Chen B; Han L; Gao Y; Yang Z; Li B; Yang XA
    Front Genet; 2019; 10():485. PubMed ID: 31178897
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification of novel candidate disease genes from de novo exonic copy number variants.
    Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P
    Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.
    Ullah A; Shah AA; Alluqmani M; Haider N; Aman H; Alfadhli F; Almatrafi AM; Albalawi AM; Krishin J; Ullah Khan F; Anjam BA; Abdullah ; Lozano EP; Samad A; Ahmad W; Hansen T; Xia K; Basit S
    Int J Dev Neurosci; 2022 Dec; 82(8):789-805. PubMed ID: 36181241
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
    Tisserant E; Vitobello A; Callegarin D; Verdez S; Bruel AL; Aho Glele LS; Sorlin A; Viora-Dupont E; Konyukh M; Marle N; Nambot S; Moutton S; Racine C; Garde A; Delanne J; Tran-Mau-Them F; Philippe C; Kuentz P; Poulleau M; Payet M; Poe C; Thauvin-Robinet C; Faivre L; Mosca-Boidron AL; Thevenon J; Duffourd Y; Callier P
    Ann Hum Genet; 2022 Jul; 86(4):171-180. PubMed ID: 35141892
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
    Shin S; Lee J; Kim YG; Ha C; Park JH; Kim JW; Lee J; Jang JH
    Pediatr Neurol; 2023 Dec; 149():44-52. PubMed ID: 37776660
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
    Bestetti I; Barbieri C; Sironi A; Specchia V; Yatsenko SA; De Donno MD; Caslini C; Gentilini D; Crippa M; Larizza L; Marozzi A; Rajkovic A; Toniolo D; Bozzetti MP; Finelli P
    Hum Reprod; 2021 Oct; 36(11):2975-2991. PubMed ID: 34480478
    [TBL] [Abstract][Full Text] [Related]  

  • 36. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
    Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.
    Khalaf T; Al Ojaimi M; Saleh DA; Sulaiman A; Sohal AP; Khan A; El-Hattab AW
    Clin Genet; 2024 Jul; 106(1):82-89. PubMed ID: 38438125
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
    van der Sanden BPGH; Schobers G; Corominas Galbany J; Koolen DA; Sinnema M; van Reeuwijk J; Stumpel CTRM; Kleefstra T; de Vries BBA; Ruiterkamp-Versteeg M; Leijsten N; Kwint M; Derks R; Swinkels H; den Ouden A; Pfundt R; Rinne T; de Leeuw N; Stegmann AP; Stevens SJ; van den Wijngaard A; Brunner HG; Yntema HG; Gilissen C; Nelen MR; Vissers LELM
    Eur J Hum Genet; 2023 Jan; 31(1):81-88. PubMed ID: 36114283
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Pathogenic
    Song JM; Kang M; Park DH; Park S; Lee S; Suh YH
    J Neurosci; 2021 Mar; 41(11):2344-2359. PubMed ID: 33500274
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
    Chérot E; Keren B; Dubourg C; Carré W; Fradin M; Lavillaureix A; Afenjar A; Burglen L; Whalen S; Charles P; Marey I; Heide S; Jacquette A; Heron D; Doummar D; Rodriguez D; Billette de Villemeur T; Moutard ML; Guët A; Xavier J; Périsse D; Cohen D; Demurger F; Quélin C; Depienne C; Odent S; Nava C; David V; Pasquier L; Mignot C
    Clin Genet; 2018 Mar; 93(3):567-576. PubMed ID: 28708303
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.